SLC38A2 (solute carrier family 38 member 2) - Rat Genome Database

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Gene: SLC38A2 (solute carrier family 38 member 2) Homo sapiens
Analyze
Symbol: SLC38A2
Name: solute carrier family 38 member 2
RGD ID: 736694
HGNC Page HGNC
Description: Enables neutral amino acid:sodium symporter activity. Involved in several processes, including amino acid transport; cellular response to arsenite(3-); and positive regulation of RNA splicing. Located in cytoplasm and plasma membrane; PARTICIPATES IN glutamate signaling pathway; INTERACTS WITH 17beta-estradiol; 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: amino acid transporter 2; amino acid transporter A2; ATA2; KIAA1382; PRO1068; protein 40-9-1; SAT2; SNAT2; sodium-coupled neutral amino acid transporter 2; solute carrier family 38, member 2; system A amino acid transporter 2; system A transporter 1; system N amino acid transporter 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1246,358,188 - 46,372,773 (-)EnsemblGRCh38hg38GRCh38
GRCh381246,358,188 - 46,372,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371246,751,971 - 46,766,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361245,038,238 - 45,052,814 (-)NCBINCBI36hg18NCBI36
Build 341245,038,238 - 45,052,814NCBI
Celera1245,549,292 - 45,563,966 (-)NCBI
Cytogenetic Map12q13.11NCBI
HuRef1243,783,294 - 43,797,966 (-)NCBIHuRef
CHM1_11246,717,042 - 46,731,717 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
alpha-(methylamino)isobutyric acid  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dichloromethane  (EXP)
doxorubicin  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
levofloxacin  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (EXP)
motexafin gadolinium  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nickel atom  (EXP)
o-xylene  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenethyl caffeate  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phorone  (ISO)
pinosylvin  (EXP)
pirinixic acid  (ISO)
potassium chloride  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
ranitidine  (ISO)
rifampicin  (EXP)
rotenone  (ISO)
salubrinal  (ISO)
sevoflurane  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
toluene  (EXP,ISO)
trans-pinosylvin  (EXP)
trichloroethene  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zidovudine  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10718198   PMID:10930503   PMID:12054432   PMID:12477932   PMID:14623874   PMID:14702039   PMID:15581851   PMID:15922329   PMID:15951569   PMID:16125834   PMID:16169070   PMID:16344560  
PMID:16445384   PMID:16616430   PMID:16621798   PMID:16621896   PMID:17237199   PMID:18195088   PMID:18697751   PMID:18703994   PMID:19322201   PMID:19589777   PMID:19741197   PMID:20206993  
PMID:21622135   PMID:21832049   PMID:21873635   PMID:21930789   PMID:22028413   PMID:22215663   PMID:22810586   PMID:22939629   PMID:23408887   PMID:23506890   PMID:23728383   PMID:25544563  
PMID:25653282   PMID:25737280   PMID:25759021   PMID:26041779   PMID:26374858   PMID:26439863   PMID:26496610   PMID:26590417   PMID:26608079   PMID:26638075   PMID:27129276   PMID:27355203  
PMID:27377895   PMID:27609421   PMID:28514442   PMID:28692057   PMID:28860165   PMID:29507755   PMID:29568061   PMID:30194290   PMID:30280653   PMID:30948266   PMID:31056421   PMID:31073040  
PMID:31091453   PMID:31152137   PMID:31182584   PMID:31574264   PMID:31678930   PMID:31732153   PMID:31995728   PMID:32164327   PMID:32296183   PMID:32694731   PMID:32807901   PMID:32996252  
PMID:33028955   PMID:33144569   PMID:33845483   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
SLC38A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1246,358,188 - 46,372,773 (-)EnsemblGRCh38hg38GRCh38
GRCh381246,358,188 - 46,372,774 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371246,751,971 - 46,766,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361245,038,238 - 45,052,814 (-)NCBINCBI36hg18NCBI36
Build 341245,038,238 - 45,052,814NCBI
Celera1245,549,292 - 45,563,966 (-)NCBI
Cytogenetic Map12q13.11NCBI
HuRef1243,783,294 - 43,797,966 (-)NCBIHuRef
CHM1_11246,717,042 - 46,731,717 (-)NCBICHM1_1
Slc38a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391596,585,267 - 96,597,609 (-)NCBIGRCm39mm39
GRCm39 Ensembl1596,585,273 - 96,597,611 (-)Ensembl
GRCm381596,687,392 - 96,699,728 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1596,687,392 - 96,699,730 (-)EnsemblGRCm38mm10GRCm38
MGSCv371596,517,823 - 96,530,129 (-)NCBIGRCm37mm9NCBIm37
MGSCv361596,515,426 - 96,527,732 (-)NCBImm8
Celera1598,833,619 - 98,845,915 (-)NCBICelera
Cytogenetic Map15F1NCBI
Slc38a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27127,851,267 - 127,863,482 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7127,851,267 - 127,863,436 (-)Ensembl
Rnor_6.07138,088,654 - 138,100,869 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7138,088,649 - 138,100,841 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07137,716,131 - 137,728,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47135,365,172 - 135,377,341 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17135,441,608 - 135,453,778 (-)NCBI
Celera7124,355,437 - 124,367,606 (-)NCBICelera
Cytogenetic Map7q35NCBI
Slc38a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555005,516,039 - 5,531,758 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555005,517,323 - 5,530,055 (-)NCBIChiLan1.0ChiLan1.0
SLC38A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11243,230,007 - 43,244,343 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1243,230,007 - 43,244,343 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01242,359,637 - 42,374,251 (+)NCBIMhudiblu_PPA_v0panPan3
SLC38A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1278,056,289 - 8,068,988 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl278,018,880 - 8,066,331 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2738,238,710 - 38,252,924 (-)NCBI
ROS_Cfam_1.0278,254,344 - 8,268,583 (+)NCBI
UMICH_Zoey_3.1278,062,404 - 8,076,598 (+)NCBI
UNSW_CanFamBas_1.0278,101,404 - 8,115,453 (+)NCBI
UU_Cfam_GSD_1.02738,478,220 - 38,492,460 (-)NCBI
Slc38a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494568,607,736 - 68,620,985 (+)NCBI
SpeTri2.0NW_0049365124,543,845 - 4,557,118 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC38A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl577,113,493 - 77,127,650 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1577,113,491 - 77,127,715 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2580,036,344 - 80,050,518 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC38A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11142,580,934 - 42,595,484 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1142,580,913 - 42,595,484 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037203,832,120 - 203,846,680 (+)NCBIVero_WHO_p1.0
Slc38a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248165,888,447 - 5,902,009 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S2010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371246,752,006 - 46,752,155UniSTSGRCh37
Build 361245,038,273 - 45,038,422RGDNCBI36
Celera1245,549,327 - 45,549,476RGD
Cytogenetic Map12qUniSTS
HuRef1243,783,329 - 43,783,478UniSTS
GeneMap99-GB4 RH Map12203.66UniSTS
Whitehead-RH Map12275.4UniSTS
Whitehead-YAC Contig Map12 UniSTS
WI-11919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371246,754,374 - 46,754,500UniSTSGRCh37
Build 361245,040,641 - 45,040,767RGDNCBI36
Celera1245,551,695 - 45,551,821RGD
Cytogenetic Map12qUniSTS
HuRef1243,785,696 - 43,785,822UniSTS
GeneMap99-GB4 RH Map12205.0UniSTS
Whitehead-RH Map12275.3UniSTS
RH11173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371246,752,020 - 46,752,147UniSTSGRCh37
Build 361245,038,287 - 45,038,414RGDNCBI36
Celera1245,549,341 - 45,549,468RGD
Cytogenetic Map12qUniSTS
HuRef1243,783,343 - 43,783,470UniSTS
GeneMap99-GB4 RH Map12204.37UniSTS
RH67932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371246,752,367 - 46,752,627UniSTSGRCh37
Build 361245,038,634 - 45,038,894RGDNCBI36
Celera1245,549,688 - 45,549,948RGD
Cytogenetic Map12qUniSTS
HuRef1243,783,690 - 43,783,950UniSTS
GeneMap99-GB4 RH Map12204.69UniSTS
RH17405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371246,752,028 - 46,752,148UniSTSGRCh37
Build 361245,038,295 - 45,038,415RGDNCBI36
Celera1245,549,349 - 45,549,469RGD
Cytogenetic Map12qUniSTS
HuRef1243,783,351 - 43,783,471UniSTS
GeneMap99-GB4 RH Map12203.96UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4274
Count of miRNA genes:1079
Interacting mature miRNAs:1338
Transcripts:ENST00000256689, ENST00000546520, ENST00000547252, ENST00000548111, ENST00000548236, ENST00000548785, ENST00000548870, ENST00000549258, ENST00000551374, ENST00000551405, ENST00000552414, ENST00000552703, ENST00000553252
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1 1 3 7 6
Medium 2429 2723 1719 620 1739 462 4354 2138 3475 417 1439 1600 171 1203 2788 4
Low 10 267 6 3 209 2 2 56 259 2 13 7 4 1 1 2 2
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001307936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF259799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF298897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ344099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA725217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256689   ⟹   ENSP00000256689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,358,188 - 46,372,773 (-)Ensembl
RefSeq Acc Id: ENST00000546520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,361,118 - 46,362,904 (-)Ensembl
RefSeq Acc Id: ENST00000547252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,364,642 - 46,371,433 (-)Ensembl
RefSeq Acc Id: ENST00000548111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,362,290 - 46,364,553 (-)Ensembl
RefSeq Acc Id: ENST00000548236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,362,325 - 46,364,832 (-)Ensembl
RefSeq Acc Id: ENST00000548785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,361,853 - 46,362,542 (-)Ensembl
RefSeq Acc Id: ENST00000548870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,364,442 - 46,367,410 (-)Ensembl
RefSeq Acc Id: ENST00000549258   ⟹   ENSP00000449695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,358,481 - 46,372,771 (-)Ensembl
RefSeq Acc Id: ENST00000551374   ⟹   ENSP00000450406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,359,385 - 46,365,307 (-)Ensembl
RefSeq Acc Id: ENST00000551405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,370,512 - 46,372,446 (-)Ensembl
RefSeq Acc Id: ENST00000552414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,363,115 - 46,364,742 (-)Ensembl
RefSeq Acc Id: ENST00000552703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,360,960 - 46,362,561 (-)Ensembl
RefSeq Acc Id: ENST00000553252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,370,799 - 46,372,773 (-)Ensembl
RefSeq Acc Id: ENST00000612232   ⟹   ENSP00000482873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1246,361,111 - 46,370,789 (-)Ensembl
RefSeq Acc Id: NM_001307936   ⟹   NP_001294865
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,358,188 - 46,372,773 (-)NCBI
CHM1_11246,717,042 - 46,731,717 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018976   ⟹   NP_061849
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,358,188 - 46,372,773 (-)NCBI
GRCh371246,751,971 - 46,766,645 (-)ENTREZGENE
Build 361245,038,238 - 45,052,814 (-)NCBI Archive
HuRef1243,783,294 - 43,797,966 (-)ENTREZGENE
CHM1_11246,717,042 - 46,731,717 (-)NCBI
Sequence:
RefSeq Acc Id: XR_944589
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,358,188 - 46,372,774 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061849   ⟸   NM_018976
- Peptide Label: isoform 1
- UniProtKB: Q96QD8 (UniProtKB/Swiss-Prot),   A0A024R0W3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001294865   ⟸   NM_001307936
- Peptide Label: isoform 2 precursor
- UniProtKB: Q96QD8 (UniProtKB/Swiss-Prot),   Q8NHT5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000256689   ⟸   ENST00000256689
RefSeq Acc Id: ENSP00000482873   ⟸   ENST00000612232
RefSeq Acc Id: ENSP00000449695   ⟸   ENST00000549258
RefSeq Acc Id: ENSP00000450406   ⟸   ENST00000551374
Protein Domains
Aa_trans

Promoters
RGD ID:6815013
Promoter ID:HG_MRA:3572
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF116620
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,037,366 - 45,037,866 (+)MPROMDB
RGD ID:6815022
Promoter ID:HG_MRA:3571
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC016909,   BC029379
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,039,266 - 45,039,766 (-)MPROMDB
RGD ID:6810417
Promoter ID:HG_ACW:16650
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC38A2.CAPR07,   SLC38A2.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,048,316 - 45,050,607 (-)MPROMDB
RGD ID:6810318
Promoter ID:HG_ACW:16651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:KADEEBY.AAPR07,   SLC38A2.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,051,421 - 45,052,147 (+)MPROMDB
RGD ID:6790495
Promoter ID:HG_KWN:15445
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001RPG.1,   UC001RPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,052,331 - 45,053,702 (-)MPROMDB
RGD ID:6850996
Promoter ID:EP73294
Type:multiple initiation site
Name:HS_SLC38A2
Description:Solute carrier family 38, member 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361245,052,823 - 45,052,883EPD
RGD ID:7223687
Promoter ID:EPDNEW_H17589
Type:initiation region
Name:SLC38A2_3
Description:solute carrier family 38 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17590  EPDNEW_H17591  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,370,799 - 46,370,859EPDNEW
RGD ID:7223689
Promoter ID:EPDNEW_H17590
Type:initiation region
Name:SLC38A2_2
Description:solute carrier family 38 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17589  EPDNEW_H17591  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,371,317 - 46,371,377EPDNEW
RGD ID:7223693
Promoter ID:EPDNEW_H17591
Type:initiation region
Name:SLC38A2_1
Description:solute carrier family 38 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17589  EPDNEW_H17590  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381246,372,773 - 46,372,833EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11
pathogenic
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 copy number loss See cases [RCV000138626] Chr12:40713887..46551900 [GRCh38]
Chr12:41107689..46945683 [GRCh37]
Chr12:39393956..45231950 [NCBI36]
Chr12:12q12-13.11
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)x3 copy number gain Ductal breast carcinoma [RCV000207312] Chr12:46325342..46765019 [GRCh37]
Chr12:12q12-13.11
uncertain significance
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12
pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_018976.5(SLC38A2):c.474C>T (p.Asn158=) single nucleotide variant not provided [RCV000974624] Chr12:46367083 [GRCh38]
Chr12:46760866 [GRCh37]
Chr12:12q13.11
benign
NM_018976.5(SLC38A2):c.591G>A (p.Leu197=) single nucleotide variant not provided [RCV000888005] Chr12:46365162 [GRCh38]
Chr12:46758945 [GRCh37]
Chr12:12q13.11
benign
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13448 AgrOrtholog
COSMIC SLC38A2 COSMIC
Ensembl Genes ENSG00000134294 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000256689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000449695 UniProtKB/TrEMBL
  ENSP00000450406 UniProtKB/TrEMBL
  ENSP00000482873 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000256689 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000549258 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000551374 UniProtKB/TrEMBL
  ENST00000612232 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000134294 GTEx
HGNC ID HGNC:13448 ENTREZGENE
Human Proteome Map SLC38A2 Human Proteome Map
InterPro AA_transpt_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54407 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54407 ENTREZGENE
OMIM 605180 OMIM
Pfam Aa_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37773 PharmGKB
UniProt A0A024R0W3 ENTREZGENE, UniProtKB/TrEMBL
  F8VQW8_HUMAN UniProtKB/TrEMBL
  F8VUY8_HUMAN UniProtKB/TrEMBL
  Q8NHT5 ENTREZGENE, UniProtKB/TrEMBL
  Q96QD8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6IA88 UniProtKB/Swiss-Prot
  Q6ZMG2 UniProtKB/Swiss-Prot
  Q9HAV3 UniProtKB/Swiss-Prot
  Q9NVA8 UniProtKB/Swiss-Prot
  Q9P2G5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 SLC38A2  solute carrier family 38 member 2    solute carrier family 38, member 2  Symbol and/or name change 5135510 APPROVED